Linked Data
ClinVar Variation Id:
5078
ClinVar RCV Id:
RCV000005383
dbSNP Id:
rs121917824
ExAC:
16:75512900 A / G
gnomAD v2:
16-75512900-A-G
gnomAD v3:
16-75479002-A-G
gnomAD v4:
16-75479002-A-G
PubMed:
PMID:15013869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75479002A>G , CM000678.2:g.75479002A>G | GRCh38 |
| NC_000016.9:g.75512900A>G , CM000678.1:g.75512900A>G | GRCh37 |
| NC_000016.8:g.74070401A>G | NCBI36 |
| NG_016442.1:g.21027T>C | |
| NG_016442.2:g.21440T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332272.9:c.827T>C MANE Select | ENSP00000328983.4:p.Leu276Pro | |
| ENST00000390664.3:c.827T>C | ENSP00000375079.2:p.Leu276Pro | |
| ENST00000649341.1:c.827T>C | ENSP00000497635.1:p.Leu276Pro | |
| ENST00000649824.1:c.827T>C | ENSP00000496806.1:p.Leu276Pro | |
| ENST00000332272.8:c.827T>C | ENSP00000328983.4:p.Leu276Pro | |
| ENST00000390664.2:c.827T>C | ENSP00000375079.2:p.Leu276Pro | |
| NM_021615.4:c.827T>C | NP_067628.1:p.Leu276Pro | |
| XM_005255955.3:c.827T>C | XP_005256012.1:p.Leu276Pro | |
| XM_011523085.1:c.827T>C | XP_011521387.1:p.Leu276Pro | |
| NM_021615.5:c.827T>C MANE Select | NP_067628.1:p.Leu276Pro | |
| XM_005255955.5:c.827T>C | XP_005256012.1:p.Leu276Pro | |
| XM_011523085.3:c.827T>C | XP_011521387.1:p.Leu276Pro | |
| NR_163480.1:n.733+2815T>C | ||
| NR_163481.1:n.577+2815T>C |